SNP Links for Protein (Select 388240782) - SNP

Select item 14915812661.

rs1491581266 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:6469127 (GRCh38)
1:6529187 (GRCh37)
Canonical SPDI:: NC_000001.11:6469126:CC:
Gene:: PLEKHG5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000031/6 (GnomAD_exomes)
-=0.000068/6 (ExAC)
-=0.000157/18 (GnomAD)
HGVS:: NC_000001.11:g.6469127_6469128del, NC_000001.10:g.6529187_6529188del, NG_007978.1:g.55882_55883del, NM_020631.6:c.2163_2164del, NM_020631.5:c.2163_2164del, NM_020631.4:c.2163_2164del, NM_198681.4:c.2163_2164del, NM_198681.3:c.2394_2395del, NM_001042663.3:c.2274_2275del, NM_001042663.2:c.2331_2332del, NM_001042663.1:c.2331_2332del, NM_001265594.2:c.2163_2164del, NM_001265594.1:c.2163_2164del, NM_001265592.2:c.2274_2275del, NM_001265592.1:c.2400_2401del, NM_001265593.1:c.2370_2371del, NM_001042664.1:c.2163_2164del, NM_001042665.1:c.2163_2164del, NG_029910.1:g.2068_2069del, NP_065682.2:p.Glu722fs, NP_941374.3:p.Glu722fs, NP_001036128.2:p.Glu759fs, NP_001252523.1:p.Glu722fs, NP_001252521.2:p.Glu759fs, NP_001252522.1:p.Glu791fs, NP_001036129.1:p.Glu722fs, NP_001036130.1:p.Glu722fs

Select item 14906231452.

rs1490623145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:6470993 (GRCh38)
1:6531053 (GRCh37)
Canonical SPDI:: NC_000001.11:6470992:G:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6470993G>T, NC_000001.10:g.6531053G>T, NG_007978.1:g.54017C>A, NM_020631.6:c.1389C>A, NM_020631.5:c.1389C>A, NM_020631.4:c.1389C>A, NM_198681.4:c.1389C>A, NM_198681.3:c.1620C>A, NM_001042663.3:c.1500C>A, NM_001042663.2:c.1557C>A, NM_001042663.1:c.1557C>A, NM_001265594.2:c.1389C>A, NM_001265594.1:c.1389C>A, NM_001265592.2:c.1500C>A, NM_001265592.1:c.1626C>A, NM_001265593.1:c.1596C>A, NM_001042664.1:c.1389C>A, NM_001042665.1:c.1389C>A, NG_029910.1:g.203C>A

Select item 14895295203.

rs1489529520 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCTCCTC>- [Show Flanks]
Chromosome:: 1:6469149 (GRCh38)
1:6529209 (GRCh37)
Canonical SPDI:: NC_000001.11:6469140:TCCTCCTCTTCCTCCTC:TCCTCCTC
Gene:: PLEKHG5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCCTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6469149_6469157del, NC_000001.10:g.6529209_6529217del, NG_007978.1:g.55861_55869del, NM_020631.6:c.2142_2150del, NM_020631.5:c.2142_2150del, NM_020631.4:c.2142_2150del, NM_198681.4:c.2142_2150del, NM_198681.3:c.2373_2381del, NM_001042663.3:c.2253_2261del, NM_001042663.2:c.2310_2318del, NM_001042663.1:c.2310_2318del, NM_001265594.2:c.2142_2150del, NM_001265594.1:c.2142_2150del, NM_001265592.2:c.2253_2261del, NM_001265592.1:c.2379_2387del, NM_001265593.1:c.2349_2357del, NM_001042664.1:c.2142_2150del, NM_001042665.1:c.2142_2150del, NG_029910.1:g.2047_2055del, NP_065682.2:p.Glu721_Glu723del, NP_941374.3:p.Glu721_Glu723del, NP_001036128.2:p.Glu758_Glu760del, NP_001252523.1:p.Glu721_Glu723del, NP_001252521.2:p.Glu758_Glu760del, NP_001252522.1:p.Glu790_Glu792del, NP_001036129.1:p.Glu721_Glu723del, NP_001036130.1:p.Glu721_Glu723del

Select item 14890619894.

rs1489061989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:6474029 (GRCh38)
1:6534089 (GRCh37)
Canonical SPDI:: NC_000001.11:6474028:T:C,NC_000001.11:6474028:T:G
Gene:: PLEKHG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6474029T>C, NC_000001.11:g.6474029T>G, NC_000001.10:g.6534089T>C, NC_000001.10:g.6534089T>G, NG_007978.1:g.50981A>G, NG_007978.1:g.50981A>C, NM_020631.6:c.575A>G, NM_020631.6:c.575A>C, NM_020631.5:c.575A>G, NM_020631.5:c.575A>C, NM_020631.4:c.575A>G, NM_020631.4:c.575A>C, NM_198681.4:c.575A>G, NM_198681.4:c.575A>C, NM_198681.3:c.806A>G, NM_198681.3:c.806A>C, NM_001042663.3:c.686A>G, NM_001042663.3:c.686A>C, NM_001042663.2:c.743A>G, NM_001042663.2:c.743A>C, NM_001042663.1:c.743A>G, NM_001042663.1:c.743A>C, NM_001265594.2:c.575A>G, NM_001265594.2:c.575A>C, NM_001265594.1:c.575A>G, NM_001265594.1:c.575A>C, NM_001265592.2:c.686A>G, NM_001265592.2:c.686A>C, NM_001265592.1:c.812A>G, NM_001265592.1:c.812A>C, NM_001265593.1:c.782A>G, NM_001265593.1:c.782A>C, NM_001042664.1:c.575A>G, NM_001042664.1:c.575A>C, NM_001042665.1:c.575A>G, NM_001042665.1:c.575A>C, NP_065682.2:p.Glu192Gly, NP_065682.2:p.Glu192Ala, NP_941374.3:p.Glu192Gly, NP_941374.3:p.Glu192Ala, NP_001036128.2:p.Glu229Gly, NP_001036128.2:p.Glu229Ala, NP_001252523.1:p.Glu192Gly, NP_001252523.1:p.Glu192Ala, NP_001252521.2:p.Glu229Gly, NP_001252521.2:p.Glu229Ala, NP_001252522.1:p.Glu261Gly, NP_001252522.1:p.Glu261Ala, NP_001036129.1:p.Glu192Gly, NP_001036129.1:p.Glu192Ala, NP_001036130.1:p.Glu192Gly, NP_001036130.1:p.Glu192Ala

Select item 14888550965.

rs1488855096 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTCCTCTTCCTCCTCCT>- [Show Flanks]
Chromosome:: 1:6469142 (GRCh38)
1:6529202 (GRCh37)
Canonical SPDI:: NC_000001.11:6469131:TCCTCCTCCTCCTCCTCTTCCTCCTCCT:TCCTCCTCCT
Gene:: PLEKHG5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCCTCCTCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6469142_6469159del, NC_000001.10:g.6529202_6529219del, NG_007978.1:g.55861_55878del, NM_020631.6:c.2142_2159del, NM_020631.5:c.2142_2159del, NM_020631.4:c.2142_2159del, NM_198681.4:c.2142_2159del, NM_198681.3:c.2373_2390del, NM_001042663.3:c.2253_2270del, NM_001042663.2:c.2310_2327del, NM_001042663.1:c.2310_2327del, NM_001265594.2:c.2142_2159del, NM_001265594.1:c.2142_2159del, NM_001265592.2:c.2253_2270del, NM_001265592.1:c.2379_2396del, NM_001265593.1:c.2349_2366del, NM_001042664.1:c.2142_2159del, NM_001042665.1:c.2142_2159del, NG_029910.1:g.2047_2064del, NP_065682.2:p.Glu718_Glu723del, NP_941374.3:p.Glu718_Glu723del, NP_001036128.2:p.Glu755_Glu760del, NP_001252523.1:p.Glu718_Glu723del, NP_001252521.2:p.Glu755_Glu760del, NP_001252522.1:p.Glu787_Glu792del, NP_001036129.1:p.Glu718_Glu723del, NP_001036130.1:p.Glu718_Glu723del

Select item 14880548526.

rs1488054852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6470611 (GRCh38)
1:6530671 (GRCh37)
Canonical SPDI:: NC_000001.11:6470610:C:G
Gene:: PLEKHG5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6470611C>G, NC_000001.10:g.6530671C>G, NG_007978.1:g.54399G>C, NM_020631.6:c.1575G>C, NM_020631.5:c.1575G>C, NM_020631.4:c.1575G>C, NM_198681.4:c.1575G>C, NM_198681.3:c.1806G>C, NM_001042663.3:c.1686G>C, NM_001042663.2:c.1743G>C, NM_001042663.1:c.1743G>C, NM_001265594.2:c.1575G>C, NM_001265594.1:c.1575G>C, NM_001265592.2:c.1686G>C, NM_001265592.1:c.1812G>C, NM_001265593.1:c.1782G>C, NM_001042664.1:c.1575G>C, NM_001042665.1:c.1575G>C, NG_029910.1:g.585G>C

Select item 14862298747.

rs1486229874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6471059 (GRCh38)
1:6531119 (GRCh37)
Canonical SPDI:: NC_000001.11:6471058:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.6471059C>T, NC_000001.10:g.6531119C>T, NG_007978.1:g.53951G>A, NM_020631.6:c.1323G>A, NM_020631.5:c.1323G>A, NM_020631.4:c.1323G>A, NM_198681.4:c.1323G>A, NM_198681.3:c.1554G>A, NM_001042663.3:c.1434G>A, NM_001042663.2:c.1491G>A, NM_001042663.1:c.1491G>A, NM_001265594.2:c.1323G>A, NM_001265594.1:c.1323G>A, NM_001265592.2:c.1434G>A, NM_001265592.1:c.1560G>A, NM_001265593.1:c.1530G>A, NM_001042664.1:c.1323G>A, NM_001042665.1:c.1323G>A, NG_029910.1:g.137G>A

Select item 14855771288.

rs1485577128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:6471782 (GRCh38)
1:6531842 (GRCh37)
Canonical SPDI:: NC_000001.11:6471781:C:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6471782C>A, NC_000001.10:g.6531842C>A, NG_007978.1:g.53228G>T, NM_020631.6:c.1107G>T, NM_020631.5:c.1107G>T, NM_020631.4:c.1107G>T, NM_198681.4:c.1107G>T, NM_198681.3:c.1338G>T, NM_001042663.3:c.1218G>T, NM_001042663.2:c.1275G>T, NM_001042663.1:c.1275G>T, NM_001265594.2:c.1107G>T, NM_001265594.1:c.1107G>T, NM_001265592.2:c.1218G>T, NM_001265592.1:c.1344G>T, NM_001265593.1:c.1314G>T, NM_001042664.1:c.1107G>T, NM_001042665.1:c.1107G>T

Select item 14820668019.

rs1482066801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:6474074 (GRCh38)
1:6534134 (GRCh37)
Canonical SPDI:: NC_000001.11:6474073:G:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6474074G>T, NC_000001.10:g.6534134G>T, NG_007978.1:g.50936C>A, NM_020631.6:c.530C>A, NM_020631.5:c.530C>A, NM_020631.4:c.530C>A, NM_198681.4:c.530C>A, NM_198681.3:c.761C>A, NM_001042663.3:c.641C>A, NM_001042663.2:c.698C>A, NM_001042663.1:c.698C>A, NM_001265594.2:c.530C>A, NM_001265594.1:c.530C>A, NM_001265592.2:c.641C>A, NM_001265592.1:c.767C>A, NM_001265593.1:c.737C>A, NM_001042664.1:c.530C>A, NM_001042665.1:c.530C>A, NP_065682.2:p.Thr177Asn, NP_941374.3:p.Thr177Asn, NP_001036128.2:p.Thr214Asn, NP_001252523.1:p.Thr177Asn, NP_001252521.2:p.Thr214Asn, NP_001252522.1:p.Thr246Asn, NP_001036129.1:p.Thr177Asn, NP_001036130.1:p.Thr177Asn

Select item 148134556410.

rs1481345564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6468251 (GRCh38)
1:6528311 (GRCh37)
Canonical SPDI:: NC_000001.11:6468250:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.6468251G>A, NC_000001.10:g.6528311G>A, NG_007978.1:g.56759C>T, NM_020631.6:c.2585C>T, NM_020631.5:c.2585C>T, NM_020631.4:c.2585C>T, NM_198681.4:c.2585C>T, NM_198681.3:c.2816C>T, NM_001042663.3:c.2696C>T, NM_001042663.2:c.2753C>T, NM_001042663.1:c.2753C>T, NM_001265594.2:c.2585C>T, NM_001265594.1:c.2585C>T, NM_001265592.2:c.2696C>T, NM_001265592.1:c.2822C>T, NM_001265593.1:c.2792C>T, NM_001042664.1:c.2585C>T, NM_001042665.1:c.2585C>T, NG_029910.1:g.2945C>T, NP_065682.2:p.Thr862Ile, NP_941374.3:p.Thr862Ile, NP_001036128.2:p.Thr899Ile, NP_001252523.1:p.Thr862Ile, NP_001252521.2:p.Thr899Ile, NP_001252522.1:p.Thr931Ile, NP_001036129.1:p.Thr862Ile, NP_001036130.1:p.Thr862Ile

Select item 148095870811.

rs1480958708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:6470526 (GRCh38)
1:6530586 (GRCh37)
Canonical SPDI:: NC_000001.11:6470525:T:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6470526T>A, NC_000001.10:g.6530586T>A, NG_007978.1:g.54484A>T, NM_020631.6:c.1660A>T, NM_020631.5:c.1660A>T, NM_020631.4:c.1660A>T, NM_198681.4:c.1660A>T, NM_198681.3:c.1891A>T, NM_001042663.3:c.1771A>T, NM_001042663.2:c.1828A>T, NM_001042663.1:c.1828A>T, NM_001265594.2:c.1660A>T, NM_001265594.1:c.1660A>T, NM_001265592.2:c.1771A>T, NM_001265592.1:c.1897A>T, NM_001265593.1:c.1867A>T, NM_001042664.1:c.1660A>T, NM_001042665.1:c.1660A>T, NG_029910.1:g.670A>T, NP_065682.2:p.Ser554Cys, NP_941374.3:p.Ser554Cys, NP_001036128.2:p.Ser591Cys, NP_001252523.1:p.Ser554Cys, NP_001252521.2:p.Ser591Cys, NP_001252522.1:p.Ser623Cys, NP_001036129.1:p.Ser554Cys, NP_001036130.1:p.Ser554Cys

Select item 148076556312.

rs1480765563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6474030 (GRCh38)
1:6534090 (GRCh37)
Canonical SPDI:: NC_000001.11:6474029:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6474030C>T, NC_000001.10:g.6534090C>T, NG_007978.1:g.50980G>A, NM_020631.6:c.574G>A, NM_020631.5:c.574G>A, NM_020631.4:c.574G>A, NM_198681.4:c.574G>A, NM_198681.3:c.805G>A, NM_001042663.3:c.685G>A, NM_001042663.2:c.742G>A, NM_001042663.1:c.742G>A, NM_001265594.2:c.574G>A, NM_001265594.1:c.574G>A, NM_001265592.2:c.685G>A, NM_001265592.1:c.811G>A, NM_001265593.1:c.781G>A, NM_001042664.1:c.574G>A, NM_001042665.1:c.574G>A, NP_065682.2:p.Glu192Lys, NP_941374.3:p.Glu192Lys, NP_001036128.2:p.Glu229Lys, NP_001252523.1:p.Glu192Lys, NP_001252521.2:p.Glu229Lys, NP_001252522.1:p.Glu261Lys, NP_001036129.1:p.Glu192Lys, NP_001036130.1:p.Glu192Lys

Select item 148057223313.

rs1480572233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6477529 (GRCh38)
1:6537589 (GRCh37)
Canonical SPDI:: NC_000001.11:6477528:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.6477529C>T, NC_000001.10:g.6537589C>T, NG_007978.1:g.47481G>A, NM_020631.6:c.43G>A, NM_020631.5:c.43G>A, NM_020631.4:c.43G>A, NM_198681.4:c.43G>A, NM_198681.3:c.274G>A, NM_001042663.3:c.154G>A, NM_001042663.2:c.211G>A, NM_001042663.1:c.211G>A, NM_001265594.2:c.43G>A, NM_001265594.1:c.43G>A, NM_001265592.2:c.154G>A, NM_001265592.1:c.280G>A, NM_001265593.1:c.250G>A, NM_001042664.1:c.43G>A, NM_001042665.1:c.43G>A, NG_081922.1:g.867C>T, NP_065682.2:p.Gly15Ser, NP_941374.3:p.Gly15Ser, NP_001036128.2:p.Gly52Ser, NP_001252523.1:p.Gly15Ser, NP_001252521.2:p.Gly52Ser, NP_001252522.1:p.Gly84Ser, NP_001036129.1:p.Gly15Ser, NP_001036130.1:p.Gly15Ser

Select item 148026902814.

rs1480269028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:6470598 (GRCh38)
1:6530658 (GRCh37)
Canonical SPDI:: NC_000001.11:6470597:G:A,NC_000001.11:6470597:G:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.6470598G>A, NC_000001.11:g.6470598G>T, NC_000001.10:g.6530658G>A, NC_000001.10:g.6530658G>T, NG_007978.1:g.54412C>T, NG_007978.1:g.54412C>A, NM_020631.6:c.1588C>T, NM_020631.6:c.1588C>A, NM_020631.5:c.1588C>T, NM_020631.5:c.1588C>A, NM_020631.4:c.1588C>T, NM_020631.4:c.1588C>A, NM_198681.4:c.1588C>T, NM_198681.4:c.1588C>A, NM_198681.3:c.1819C>T, NM_198681.3:c.1819C>A, NM_001042663.3:c.1699C>T, NM_001042663.3:c.1699C>A, NM_001042663.2:c.1756C>T, NM_001042663.2:c.1756C>A, NM_001042663.1:c.1756C>T, NM_001042663.1:c.1756C>A, NM_001265594.2:c.1588C>T, NM_001265594.2:c.1588C>A, NM_001265594.1:c.1588C>T, NM_001265594.1:c.1588C>A, NM_001265592.2:c.1699C>T, NM_001265592.2:c.1699C>A, NM_001265592.1:c.1825C>T, NM_001265592.1:c.1825C>A, NM_001265593.1:c.1795C>T, NM_001265593.1:c.1795C>A, NM_001042664.1:c.1588C>T, NM_001042664.1:c.1588C>A, NM_001042665.1:c.1588C>T, NM_001042665.1:c.1588C>A, NG_029910.1:g.598C>T, NG_029910.1:g.598C>A, NP_065682.2:p.Arg530Trp, NP_941374.3:p.Arg530Trp, NP_001036128.2:p.Arg567Trp, NP_001252523.1:p.Arg530Trp, NP_001252521.2:p.Arg567Trp, NP_001252522.1:p.Arg599Trp, NP_001036129.1:p.Arg530Trp, NP_001036130.1:p.Arg530Trp

Select item 147972538815.

rs1479725388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:6476029 (GRCh38)
1:6536089 (GRCh37)
Canonical SPDI:: NC_000001.11:6476028:C:G,NC_000001.11:6476028:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.6476029C>G, NC_000001.11:g.6476029C>T, NC_000001.10:g.6536089C>G, NC_000001.10:g.6536089C>T, NG_007978.1:g.48981G>C, NG_007978.1:g.48981G>A, NM_020631.6:c.51G>C, NM_020631.6:c.51G>A, NM_020631.5:c.51G>C, NM_020631.5:c.51G>A, NM_020631.4:c.51G>C, NM_020631.4:c.51G>A, NM_198681.4:c.51G>C, NM_198681.4:c.51G>A, NM_198681.3:c.282G>C, NM_198681.3:c.282G>A, NM_001042663.3:c.162G>C, NM_001042663.3:c.162G>A, NM_001042663.2:c.219G>C, NM_001042663.2:c.219G>A, NM_001042663.1:c.219G>C, NM_001042663.1:c.219G>A, NM_001265594.2:c.51G>C, NM_001265594.2:c.51G>A, NM_001265594.1:c.51G>C, NM_001265594.1:c.51G>A, NM_001265592.2:c.162G>C, NM_001265592.2:c.162G>A, NM_001265592.1:c.288G>C, NM_001265592.1:c.288G>A, NM_001265593.1:c.258G>C, NM_001265593.1:c.258G>A, NM_001042664.1:c.51G>C, NM_001042664.1:c.51G>A, NM_001042665.1:c.51G>C, NM_001042665.1:c.51G>A

Select item 147972416516.

rs1479724165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:6473379 (GRCh38)
1:6533439 (GRCh37)
Canonical SPDI:: NC_000001.11:6473378:G:C,NC_000001.11:6473378:G:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6473379G>C, NC_000001.11:g.6473379G>T, NC_000001.10:g.6533439G>C, NC_000001.10:g.6533439G>T, NG_007978.1:g.51631C>G, NG_007978.1:g.51631C>A, NM_020631.6:c.667C>G, NM_020631.6:c.667C>A, NM_020631.5:c.667C>G, NM_020631.5:c.667C>A, NM_020631.4:c.667C>G, NM_020631.4:c.667C>A, NM_198681.4:c.667C>G, NM_198681.4:c.667C>A, NM_198681.3:c.898C>G, NM_198681.3:c.898C>A, NM_001042663.3:c.778C>G, NM_001042663.3:c.778C>A, NM_001042663.2:c.835C>G, NM_001042663.2:c.835C>A, NM_001042663.1:c.835C>G, NM_001042663.1:c.835C>A, NM_001265594.2:c.667C>G, NM_001265594.2:c.667C>A, NM_001265594.1:c.667C>G, NM_001265594.1:c.667C>A, NM_001265592.2:c.778C>G, NM_001265592.2:c.778C>A, NM_001265592.1:c.904C>G, NM_001265592.1:c.904C>A, NM_001265593.1:c.874C>G, NM_001265593.1:c.874C>A, NM_001042664.1:c.667C>G, NM_001042664.1:c.667C>A, NM_001042665.1:c.667C>G, NM_001042665.1:c.667C>A, NP_065682.2:p.Pro223Ala, NP_065682.2:p.Pro223Thr, NP_941374.3:p.Pro223Ala, NP_941374.3:p.Pro223Thr, NP_001036128.2:p.Pro260Ala, NP_001036128.2:p.Pro260Thr, NP_001252523.1:p.Pro223Ala, NP_001252523.1:p.Pro223Thr, NP_001252521.2:p.Pro260Ala, NP_001252521.2:p.Pro260Thr, NP_001252522.1:p.Pro292Ala, NP_001252522.1:p.Pro292Thr, NP_001036129.1:p.Pro223Ala, NP_001036129.1:p.Pro223Thr, NP_001036130.1:p.Pro223Ala, NP_001036130.1:p.Pro223Thr

Select item 147850054917.

rs1478500549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:6471568 (GRCh38)
1:6531628 (GRCh37)
Canonical SPDI:: NC_000001.11:6471567:C:A,NC_000001.11:6471567:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.6471568C>A, NC_000001.11:g.6471568C>T, NC_000001.10:g.6531628C>A, NC_000001.10:g.6531628C>T, NG_007978.1:g.53442G>T, NG_007978.1:g.53442G>A, NM_020631.6:c.1201G>T, NM_020631.6:c.1201G>A, NM_020631.5:c.1201G>T, NM_020631.5:c.1201G>A, NM_020631.4:c.1201G>T, NM_020631.4:c.1201G>A, NM_198681.4:c.1201G>T, NM_198681.4:c.1201G>A, NM_198681.3:c.1432G>T, NM_198681.3:c.1432G>A, NM_001042663.3:c.1312G>T, NM_001042663.3:c.1312G>A, NM_001042663.2:c.1369G>T, NM_001042663.2:c.1369G>A, NM_001042663.1:c.1369G>T, NM_001042663.1:c.1369G>A, NM_001265594.2:c.1201G>T, NM_001265594.2:c.1201G>A, NM_001265594.1:c.1201G>T, NM_001265594.1:c.1201G>A, NM_001265592.2:c.1312G>T, NM_001265592.2:c.1312G>A, NM_001265592.1:c.1438G>T, NM_001265592.1:c.1438G>A, NM_001265593.1:c.1408G>T, NM_001265593.1:c.1408G>A, NM_001042664.1:c.1201G>T, NM_001042664.1:c.1201G>A, NM_001042665.1:c.1201G>T, NM_001042665.1:c.1201G>A, NP_065682.2:p.Val401Leu, NP_065682.2:p.Val401Met, NP_941374.3:p.Val401Leu, NP_941374.3:p.Val401Met, NP_001036128.2:p.Val438Leu, NP_001036128.2:p.Val438Met, NP_001252523.1:p.Val401Leu, NP_001252523.1:p.Val401Met, NP_001252521.2:p.Val438Leu, NP_001252521.2:p.Val438Met, NP_001252522.1:p.Val470Leu, NP_001252522.1:p.Val470Met, NP_001036129.1:p.Val401Leu, NP_001036129.1:p.Val401Met, NP_001036130.1:p.Val401Leu, NP_001036130.1:p.Val401Met

Select item 147840979618.

rs1478409796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6473014 (GRCh38)
1:6533074 (GRCh37)
Canonical SPDI:: NC_000001.11:6473013:C:G
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6473014C>G, NC_000001.10:g.6533074C>G, NG_007978.1:g.51996G>C, NM_020631.6:c.956G>C, NM_020631.5:c.956G>C, NM_020631.4:c.956G>C, NM_198681.4:c.956G>C, NM_198681.3:c.1187G>C, NM_001042663.3:c.1067G>C, NM_001042663.2:c.1124G>C, NM_001042663.1:c.1124G>C, NM_001265594.2:c.956G>C, NM_001265594.1:c.956G>C, NM_001265592.2:c.1067G>C, NM_001265592.1:c.1193G>C, NM_001265593.1:c.1163G>C, NM_001042664.1:c.956G>C, NM_001042665.1:c.956G>C, NP_065682.2:p.Ser319Thr, NP_941374.3:p.Ser319Thr, NP_001036128.2:p.Ser356Thr, NP_001252523.1:p.Ser319Thr, NP_001252521.2:p.Ser356Thr, NP_001252522.1:p.Ser388Thr, NP_001036129.1:p.Ser319Thr, NP_001036130.1:p.Ser319Thr

Select item 147806892919.

rs1478068929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6469232 (GRCh38)
1:6529292 (GRCh37)
Canonical SPDI:: NC_000001.11:6469231:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.6469232G>A, NC_000001.10:g.6529292G>A, NG_007978.1:g.55778C>T, NM_020631.6:c.2059C>T, NM_020631.5:c.2059C>T, NM_020631.4:c.2059C>T, NM_198681.4:c.2059C>T, NM_198681.3:c.2290C>T, NM_001042663.3:c.2170C>T, NM_001042663.2:c.2227C>T, NM_001042663.1:c.2227C>T, NM_001265594.2:c.2059C>T, NM_001265594.1:c.2059C>T, NM_001265592.2:c.2170C>T, NM_001265592.1:c.2296C>T, NM_001265593.1:c.2266C>T, NM_001042664.1:c.2059C>T, NM_001042665.1:c.2059C>T, NG_029910.1:g.1964C>T, NP_065682.2:p.Gln687Ter, NP_941374.3:p.Gln687Ter, NP_001036128.2:p.Gln724Ter, NP_001252523.1:p.Gln687Ter, NP_001252521.2:p.Gln724Ter, NP_001252522.1:p.Gln756Ter, NP_001036129.1:p.Gln687Ter, NP_001036130.1:p.Gln687Ter

Select item 147801577520.

rs1478015775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:6470850 (GRCh38)
1:6530910 (GRCh37)
Canonical SPDI:: NC_000001.11:6470849:T:G
Gene:: PLEKHG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6470850T>G, NC_000001.10:g.6530910T>G, NG_007978.1:g.54160A>C, NM_020631.6:c.1427A>C, NM_020631.5:c.1427A>C, NM_020631.4:c.1427A>C, NM_198681.4:c.1427A>C, NM_198681.3:c.1658A>C, NM_001042663.3:c.1538A>C, NM_001042663.2:c.1595A>C, NM_001042663.1:c.1595A>C, NM_001265594.2:c.1427A>C, NM_001265594.1:c.1427A>C, NM_001265592.2:c.1538A>C, NM_001265592.1:c.1664A>C, NM_001265593.1:c.1634A>C, NM_001042664.1:c.1427A>C, NM_001042665.1:c.1427A>C, NG_029910.1:g.346A>C, NP_065682.2:p.Lys476Thr, NP_941374.3:p.Lys476Thr, NP_001036128.2:p.Lys513Thr, NP_001252523.1:p.Lys476Thr, NP_001252521.2:p.Lys513Thr, NP_001252522.1:p.Lys545Thr, NP_001036129.1:p.Lys476Thr, NP_001036130.1:p.Lys476Thr

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